Is the EFNB2 locus associated with schizophrenia? Single nucleotide polymorphisms and haplotypes analysis

• Published in: Psychiatry research Vol. 180; no. 1; pp. 5 - 9
• Main Authors: Zhang, Rui, Zhong, Nan-Nan, Liu, Xiao-Gang, Yan, Han, Qiu, Chuan, Han, Yan, Wang, Wei, Hou, Wei-Kun, Liu, Yue, Gao, Cheng-Ge, Guo, Ting-Wei, Lu, She-Min, Deng, Hong-Wen, Ma, Jie
• Format: Journal Article
• Language: English
• Published: Kidlington Elsevier Ireland Ltd 30.11.2010; Elsevier
• Subjects: Adult and adolescent clinical studies; Aged; Asian Continental Ancestry Group - ethnology; Association; Biological and medical sciences; Chi-Square Distribution; EFNB2; Ephrin-B2 - genetics; Female; Gene Frequency; Genetic Predisposition to Disease; Haplotype; Haplotypes - genetics; Humans; Linkage Disequilibrium; Male; Medical sciences; Middle Aged; NMDA; Polymorphism, Single Nucleotide - genetics; Psychiatry; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Psychoses; Schizophrenia; Schizophrenia - genetics; Sex Factors; SNP; EFNB2; Schizophrenia; NMDA; Association; SNP; Haplotype; Psychosis; Genetics; Single nucleotide polymorphism; Genetic determinism
• ISSN: 0165-1781; 1872-7123
• DOI: 10.1016/j.psychres.2010.04.037

Abstract Recently, evidence of linkage of schizophrenia to chromosome 13q22-q34 has been demonstrated in multiple studies. Based on structure and function, EFNB2 may be considered as a compelling candidate gene for schizophrenia on chromosome 13q33. We genotyped three single-nucleotide polymorphisms (SNPs: rs9520087, rs11069646, and rs8000078) in this region in 846 Han Chinese subjects (477 cases and 369 controls). Significant association between an allele of marker rs9520087 and schizophrenia was found. Furthermore, since no LD was observed in the three SNPs linkage disequilibrium estimation, all three SNPs were used in multiple SNPs haplotype analysis, and a strongly significant difference was found for the common haplotype TTC . Overall our findings indicate that EFNB2 gene may be a candidate susceptibility gene for schizophrenia in the Han Chinese population, and also provide further support for the potential importance of the NMDA receptor pathway in the etiology of schizophrenia.